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NIH Selects MCW, Baylor as Sequencing Providers; Awards Funding for Undiagnosed Diseases Program

NEW YORK (GenomeWeb) – The National Institutes of Health said today that it has selected the Medical College of Wisconsin and Baylor College of Medicine to serve as the DNA Sequencing Core sites for its Undiagnosed Diseases Network, and will award the centers with more than $2.5 million over four years, depending on availability of funds.

In addition, NIH has awarded six centers funding to study the function of genes identified so far that are thought to play roles in patients' particular conditions.

In July, the NIH awarded six clinical research institutions $43 million to create a National Human Genome Research Institute-led network to investigate rare and undiagnosed diseases in order to expand the Undiagnosed Diseases Program that had previously been running solely at the NIH Clinical Center.

The six sites in the network include Stanford University; the University of California, Los Angeles; Vanderbilt University Medical Center; Baylor College of Medicine; Duke University; and a joint group at Boston Children's Hospital and Brigham and Women's Hospital. The NIH Clinical Center is also part of the network, and Harvard Medical School operates as a coordinating center.

Under the new funding, MCW and Baylor will provide next-generation sequencing for those clinical sites.

The sequencing core at MCW will be headed up by Howard Jacob, director of the Human and Molecular Genetics Center, and will sequence the whole genomes of 1,650 patients and family members referred by the UDN clinical sites. In addition, MCW will collaborate with Illumina to develop protocols, algorithms, quality improvements, and to help streamline the sequencing process with the goal of delivering results in two weeks per genome.

Meantime, the team at Baylor, which will be led by Christine Eng, medical director of Baylor's DNA Diagnostic Laboratory, will focus on exome sequencing.

In addition, the NIH has awarded two-year grants as part of its Undiagnosed Diseases Program to six sites to study the function of genes that have been identified through the UDP.

NIH has awarded Baylor College of Medicine $470,000. Principal investigator Brett Graham will perform cell culture and fruit fly experiments to develop a pipeline of models for disease-causing mutations in a range of human genes.

Principal investigator Paul Worley at Johns Hopkins University will use the two-year $486,000 grant to characterize the function of a mutation in the FRMPD4/Preso1 gene that is thought to be responsible for neurological symptoms in two patients in the Undiagnosed Diseases Program.

The University of California Los Angeles's Shuo Lin has been awarded $462,000 to develop zebrafish models of undiagnosed disease genes.

Diane Slusarski at the University of Iowa will use the $340,000 grant to develop a zebrafish model to study the function of 15 gene mutations associated with epilepsy.

The University of Michigan has been awarded $467,000 to evaluate the role of six variants that have been identified in the Undiagnosed Diseases Program and their role in the loss of function of the aminoacyl-tRNA synthetase enzyme. Anthony Antonellis is principal investigator of that project.

Vanderbilt University has been awarded $432,000 to establish a pipeline for functional analysis, drug discovery, and pathway identification of UDP-identified genes that can be studied in zebrafish. Wenbiao Chen is principal investigator on that project.